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Lipoprotein lipase deficiency: The disease

  • Lipoprotein lipase (LPL) is the key player in the regulation of plasma levels of triglyceride (TG)-rich lipoproteins

  • Lipoprotein lipase deficiency (LPLD) is a seriously debilitating disease caused by mutations in the LPL gene, resulting in highly decreased or absent activity of LPL, which leads to chylomicronemia. The most severe complication of the disease is potentially lethal acute pancreatitis.

  • More than 100 point mutations have been identified in the LPL gene.

  • LPLD is caused by homozygosity or compound heterozygosity for LPL loss-of-function mutations.

  • Non-compound heterozygous LPL mutations are associated with an elevated risk of familial combined hyperlipidaemia and premature atherosclerosis.

  • Gene therapy for LPLD is currently under evaluation by the European Medicines Agency (EMA).

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